Variant report

Variant	rs28377840
Chromosome Location	chr21:45967931-45967932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45967572..45969194-chr21:45971624..45974010,2	K562	blood:
2	chr21:45967694..45969320-chr21:45970824..45973124,2	K562	blood:
3	chr21:45966428..45969422-chr21:45970172..45971926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205445	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9981298	0.81[AFR][1000 genomes]
rs9982855	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv459297	chr21:45941000-45989488	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv587803	chr21:45941000-45989488	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45952400-45969600	Weak transcription	Right Atrium	heart
2	chr21:45967000-45968200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr21:45967200-45968000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr21:45967200-45968000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:45967200-45968000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr21:45967200-45968000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr21:45967200-45968000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr21:45967200-45968200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr21:45967400-45968000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr21:45967400-45968000	Enhancers	Primary B cells from peripheral blood	blood
11	chr21:45967400-45968000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:45967400-45968200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:45967400-45968400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr21:45967600-45968000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr21:45967600-45968000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr21:45967600-45968000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:45967600-45968000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr21:45967600-45968200	Enhancers	Fetal Thymus	thymus
19	chr21:45967600-45968400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr21:45967600-45968600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr21:45967600-45969400	Enhancers	Fetal Lung	lung
22	chr21:45967600-45970000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr21:45967600-45970800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:45967600-45971000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr21:45967600-45971000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:45967600-45971400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:45967600-45971800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:45967600-45972800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr21:45967600-45973000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:45967800-45968600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:45967800-45969600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr21:45967800-45969600	Enhancers	Fetal Stomach	stomach
33	chr21:45967800-45969800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr21:45967800-45969800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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